| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611581G>A | CA327063 | CFTR | c.3140G>A (p.Gly1047Asp) c.*2854G>A (n.*2854G>A) c.2957G>A (p.Gly986Asp) c.*1440G>A (n.*1440G>A) c.*2964G>A (n.*2964G>A) c.2714G>A (p.Gly905Asp) c.731G>A (p.Gly244Asp) c.790G>A c.1922G>A (p.Gly641Asp) c.3050G>A (p.Gly1017Asp) c.3230G>A (p.Gly1077Asp) c.2897G>A (p.Gly966Asp) | dbSNP gnomAD v4 COSMIC |
| 7 | g.117611581G>T | CA4451402 | CFTR | c.3140G>T (p.Gly1047Val) c.*2854G>T (n.*2854G>T) c.2957G>T (p.Gly986Val) c.*1440G>T (n.*1440G>T) c.*2964G>T (n.*2964G>T) c.2714G>T (p.Gly905Val) c.731G>T (p.Gly244Val) c.790G>T c.1922G>T (p.Gly641Val) c.3050G>T (p.Gly1017Val) c.3230G>T (p.Gly1077Val) c.2897G>T (p.Gly966Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |